Chunk #9 — REGULATORY ELEMENTS IN THE UNTRANSLATED REGIONS — Genetic variants at the 5′UTR — 5′UTR length, CpG sites and Kozak sequence

Source

Genetic variants in mRNA untranslated regions.

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yes

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Genes with differences in 5′UTR length are relatively common mainly due to the presence of multiple promoters21 or alternative splicing mechanisms within UTRs22 and may have clinical effects. For example, deletion in the 5′UTR of the ATPase copper transporting beta, ATP7B, reduces the activity of the ATP7B promoter resulting in less protein and increased Wilson disease predisposition.23